Test Price
2,800 AED✅ Home Collection Available
ST3GAL5 Gene Amish Infantile Epilepsy Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
This advanced genetic analysis, fully compliant with DHA Facility License No. 1143 and ISO 9001:2015 standards, provides definitive detection of pathogenic variants in the ST3GAL5 gene associated with Amish Infantile Epilepsy Syndrome. The test utilises Next Generation Sequencing (NGS) to deliver a diagnostic sensitivity of 99.9%, enabling precise molecular confirmation for infants and children presenting with early-onset epileptic encephalopathy. Comprehensive pre-test genetic counselling and post-result clinical guidance are integrated into the service, ensuring a seamless care pathway for families. Results are delivered as a detailed medical report within three to four weeks, supporting clinicians in targeted management and informed family planning.
Diagnostic Sensitivity: 99.9% | Turnaround Time: 3 to 4 Weeks | Direct Insurance Billing Verification Available
Test Overview & Methodology
The ST3GAL5 Gene NGS Test is a definitive neurogenetic investigation designed to detect pathogenic variants associated with Amish Infantile Epilepsy Syndrome, a severe autosomal recessive disorder characterised by intractable seizures, profound developmental delay, and progressive microcephaly. This next-generation sequencing analysis provides unparalleled diagnostic clarity for families and clinicians navigating early-onset epileptic encephalopathies, covering the full coding region and deep intronic boundaries of the ST3GAL5 gene.
| Feature | Our Test (NGS) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity, full gene coverage including deep intronic regions | Limited to known exonic hotspots |
| Method | Next Generation Sequencing (NGS) with advanced bioinformatics pipeline | Sanger Sequencing |
| Speed | 3 to 4 Weeks (comprehensive report) | 4 to 6 Weeks (often requiring multiplex ligations) |
Physician Insight & Safety Protocols
"As a consultant in medical genetics, I recognise the profound diagnostic odyssey that families endure when a child presents with unexplained seizures in early infancy. The ST3GAL5 gene test offers a definitive molecular answer, enabling tailored anti-epileptic management and accurate recurrence risk counselling for carrier parents. It is essential, however, that every genetic finding is interpreted within the full clinical context by a specialist experienced in neurogenetic disorders." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Safety Advisory
- Medication Warning: Do not discontinue or alter prescribed anti-epileptic medications without direct consultation with your treating neurologist. Genetic results do not replace acute clinical management.
- Emergency Red Flag: If your child experiences new-onset status epilepticus, severe breathing difficulty, or loss of consciousness, seek immediate emergency medical attention. Do not wait for genetic test results under any circumstances.
Exclusion Criteria & Pre-Test Requirements
- Exclusion: This test is strictly diagnostic for ST3GAL5-related disorders; it is not indicated as a standalone screening tool for non-specific developmental delay without a clinical suspicion of Amish Infantile Epilepsy Syndrome.
- Mandatory Pre-Test Requirement: A clinical history review and a genetic counselling session to construct a three-generation pedigree chart documenting family members affected with early-onset epilepsy or related neurological disorders must be completed before sample collection.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ST3GAL5 genetic test, and is it suitable for my newborn?
This test is the definitive molecular diagnostic for Amish Infantile Epilepsy Syndrome, confirming pathogenic variants in the ST3GAL5 gene that cause severe, early-onset epilepsy, profound developmental delay, and progressive microcephaly. It is specifically suitable for newborns and infants presenting with characteristic clinical features including intractable seizures and a suspected familial history, providing a conclusive diagnosis where metabolic and neuroimaging studies remain inconclusive.
2. How do I prepare my child for the sample collection, and what sample types are accepted?
A paediatric phlebotomist will collect a small volume of whole blood, or you can provide an extracted DNA sample or a single drop of blood on an FTA card, ensuring minimal discomfort with a strict cold-chain transport protocol. The critical pre-requisite is a genetic counselling session for the family to document a detailed clinical history and construct a comprehensive pedigree chart prior to blood draw.
3. What does a positive result mean for my child's long-term management and our family?
A positive result confirms a diagnosis of Amish Infantile Epilepsy Syndrome, enabling your medical team to tailor anti-epileptic drug therapy, initiate neuro-palliative care, and provide accurate recurrence risk counselling, which approximates 25% for future pregnancies in carrier parents. This knowledge empowers informed reproductive options and connects you with specialised neuromuscular centres and clinical trial networks.
UAE Regulatory & Data Privacy Adherence
This clinical service operates under DHA Facility License No. 1143 and is fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing and storage of genetic and health data. All diagnostic procedures and patient safety protocols adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields and Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring the highest standards of clinical governance, informed consent, and data confidentiality. Genetic counselling and consent documentation follow ISO 9001:2015 certified processes (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ST3GAL5 Gene Amish Infantile Epilepsy Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) with Advanced Bioinformatics Pipeline |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 21666-9 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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